Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs542079779 | 1.000 | 0.160 | 7 | 107712623 | splice donor variant | G/A | snv | 8.0E-06 | 1 | ||
rs1554362815 | 1.000 | 0.160 | 7 | 107710201 | splice donor variant | T/C | snv | 1 | |||
rs1057517303 | 0.925 | 0.160 | 7 | 107710192 | stop gained | T/A;C | snv | 3 | |||
rs727503431 | 1.000 | 0.160 | 7 | 107710179 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs1045933779 | 1.000 | 0.160 | 7 | 107710150 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs1298217152 | 1.000 | 0.160 | 7 | 107710138 | frameshift variant | -/TA | delins | 4.0E-06 | 7.0E-06 | 1 | |
rs757820624 | 0.925 | 0.160 | 7 | 107710135 | missense variant | A/G | snv | 2.0E-05 | 2.8E-05 | 2 | |
rs121908362 | 0.882 | 0.280 | 7 | 107710132 | missense variant | A/G | snv | 1.2E-04 | 3.5E-05 | 5 | |
rs121908363 | 0.925 | 0.160 | 7 | 107710126 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 | 4 | |
rs786204523 | 1.000 | 0.160 | 7 | 107710089 | frameshift variant | T/- | delins | 1 | |||
rs142656144 | 1.000 | 0.160 | 7 | 107710082 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 1 | ||
rs1455597424 | 1.000 | 0.160 | 7 | 107710053 | splice acceptor variant | G/A | snv | 8.0E-06 | 1 | ||
rs1554361624 | 1.000 | 0.160 | 7 | 107704387 | splice donor variant | T/A | snv | 1 | |||
rs727503430 | 0.925 | 0.160 | 7 | 107704386 | splice donor variant | G/A | snv | 1.3E-05 | 2.8E-05 | 2 | |
rs752807925 | 0.925 | 0.160 | 7 | 107704382 | stop gained | C/T | snv | 1.3E-05 | 3 | ||
rs1057516796 | 1.000 | 0.160 | 7 | 107704363 | frameshift variant | T/- | del | 1 | |||
rs1060499808 | 0.925 | 0.160 | 7 | 107704344 | missense variant | T/C | snv | 8.9E-06 | 2 | ||
rs1554361584 | 1.000 | 0.160 | 7 | 107704340 | stop gained | G/T | snv | 1 | |||
rs111033318 | 0.925 | 0.160 | 7 | 107702050 | missense variant | T/A | snv | 3 | |||
rs111033309 | 1.000 | 0.160 | 7 | 107702038 | missense variant | G/A;C | snv | 6.4E-05; 4.0E-06 | 1 | ||
rs121908360 | 1.000 | 0.160 | 7 | 107702023 | missense variant | T/G | snv | 1 | |||
rs200455203 | 0.925 | 0.160 | 7 | 107701998 | missense variant | G/C | snv | 8.0E-06 | 1.4E-05 | 4 | |
rs1057516636 | 1.000 | 0.160 | 7 | 107701988 | frameshift variant | C/- | delins | 1 | |||
rs397516424 | 1.000 | 0.160 | 7 | 107701986 | missense variant | A/G | snv | 2.8E-05 | 1.4E-05 | 1 | |
rs1554361015 | 1.000 | 0.160 | 7 | 107701981 | missense variant | T/C | snv | 1 |